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    MYLK2 myosin light chain kinase 2 [ Homo sapiens (human) ]

    Gene ID: 85366, updated on 27-Nov-2024

    Summary

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    Official Symbol
    MYLK2provided by HGNC
    Official Full Name
    myosin light chain kinase 2provided by HGNC
    Primary source
    HGNC:HGNC:16243
    See related
    Ensembl:ENSG00000101306 MIM:606566; AllianceGenome:HGNC:16243
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    KMLC; MLCK; MLCK2; skMLCK
    Summary
    This gene encodes a myosin light chain kinase, a calcium/calmodulin dependent enzyme, that is exclusively expressed in adult skeletal muscle. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in esophagus (RPKM 3.0), prostate (RPKM 2.0) and 5 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MYLK2 in Genome Data Viewer
    Location:
    20q11.21
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (31819356..31834684)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (33543964..33559292)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (30407159..30422487)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17698 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17699 Neighboring gene TPX2 microtubule nucleation factor Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:30373423-30373922 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:30376059-30376558 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:30403487-30404289 Neighboring gene ATP synthase membrane subunit f pseudogene 7 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:30407643-30408184 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17700 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12765 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:30411041-30411568 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:30411569-30412095 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:30412296-30412796 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:30414489-30414989 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:30421849-30422479 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:30424845-30425692 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:30432791-30433348 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17701 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12766 Neighboring gene dual specificity phosphatase 15 Neighboring gene forkhead box S1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12767 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12768 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:30467121-30467620 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12769 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12770 Neighboring gene tubulin tyrosine ligase like 9 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17702 Neighboring gene RNA, U1 small nuclear 94, pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Myosin light chain kinase and the role of myosin light chain phosphorylation in skeletal muscle. Stull JT, et al. Arch Biochem Biophys, 2011 Jun 15. PMID 21284933, Free PMC Article
    2. Myosin light chain kinases. Gallagher PJ, et al. J Muscle Res Cell Motil, 1997 Feb. PMID 9147985
    3. Isolation of the cDNA encoding rat skeletal muscle myosin light chain kinase. Sequence and tissue distribution. Roush CL, et al. J Biol Chem, 1988 Jul 25. PMID 2839493
    4. Mutational analysis of the kinase domain of MYLK2 gene in common human cancers. Soung YH, et al. Pathol Res Pract, 2006. PMID 16448786
    5. FLNC and MYLK2 Gene Mutations in a Chinese Family with Different Phenotypes of Cardiomyopathy. Qin X, et al. Int Heart J, 2021 Jan 30. PMID 33455984

    See all (51) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A novel tumor suppressor role of myosin light chain kinase splice variants through downregulation of the TEAD4/CD44 axis.
      Title: A novel tumor suppressor role of myosin light chain kinase splice variants through downregulation of the TEAD4/CD44 axis.
    2. FLNC and MYLK2 Gene Mutations in a Chinese Family with Different Phenotypes of Cardiomyopathy.
      Title: FLNC and MYLK2 Gene Mutations in a Chinese Family with Different Phenotypes of Cardiomyopathy.
    3. Chinese family with dual LQT1 and HCM phenotypes associated with tetrad heterozygous mutations in KCNQ1, MYH7, MYLK2, and TMEM70 mutations.
      Title: Dual LQT1 and HCM phenotypes associated with tetrad heterozygous mutations in KCNQ1, MYH7, MYLK2, and TMEM70 genes in a three-generation Chinese family.
    4. Data show that that the prototypical CaM target sequence skMLCK, a fragment from skeletal muscle myosin light chain kinase, binds to CaM in a highly cooperative way, while only a lower degree of interdomain binding cooperativity emerges for CaMKK.
      Title: Single-molecule force spectroscopy distinguishes target binding modes of calmodulin.
    5. MYLK gene is a risk factor for the development of acute lung injuries.
      Title: Variation in the myosin light chain kinase gene is associated with development of acute lung injury after major trauma.
    6. Observational study of gene-disease association. (HuGE Navigator)
      Title: Mutational analysis of the kinase domain of MYLK2 gene in common human cancers.
    7. These data suggest that the kinase domain of MYLK2 is rarely mutated in common human carcinomas and that it does not play a dominant role in cancer pathogenesis.
      Title: Mutational analysis of the kinase domain of MYLK2 gene in common human cancers.
    8. the P2X1-ERK2-Myosin Light Chain Kinase axis contributes to collagen-induced platelet activation by enhancing platelet degranulation
      Title: P2X1-mediated ERK2 activation amplifies the collagen-induced platelet secretion by enhancing myosin light chain kinase activation.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Hypertrophic cardiomyopathy 1
    MedGen: C3495498 OMIM: 192600 GeneReviews: Hypertrophic Cardiomyopathy Overview
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of myosin light chain kinase 2 (MYLK2) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables calcium/calmodulin-dependent protein kinase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables calmodulin binding IC
    Inferred by Curator
    more info
    		 PubMed 
    enables calmodulin binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables myosin light chain binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables myosin light chain kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables myosin light chain kinase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables myosin light chain kinase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cardiac muscle contraction IC
    Inferred by Curator
    more info
    		 PubMed 
    involved_in cardiac muscle tissue morphogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cardiac muscle tissue morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in neuromuscular synaptic transmission IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in peptidyl-threonine phosphorylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of gene expression IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein autophosphorylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of muscle filament sliding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in skeletal muscle cell differentiation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in skeletal muscle satellite cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in striated muscle contraction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in striated muscle contraction IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in sarcomere IC
    Inferred by Curator
    more info
    		 PubMed 
    located_in synapse IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    myosin light chain kinase 2, skeletal/cardiac muscle
    Names
    myosin light chain kinase 2, skeletal muscle
    NP_149109.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_012847.1 RefSeqGene

      Range
      5001..20323
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_392

    mRNA and Protein(s)

    1. NM_033118.4 → NP_149109.1  myosin light chain kinase 2, skeletal/cardiac muscle

      See identical proteins and their annotated locations for NP_149109.1

      Status: REVIEWED

      Source sequence(s)
      AL160175, BC092413
      Consensus CDS
      CCDS13191.1
      UniProtKB/Swiss-Prot
      Q569L1, Q96I84, Q9H1R3
      Related
      ENSP00000365152.4, ENST00000375985.5
      Conserved Domains (1) summary
      cd14190
      Location:280 → 540
      STKc_MLCK2; Catalytic domain of the Serine/Threonine Kinase, Myosin Light Chain Kinase 2

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      31819356..31834684
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      33543964..33559292
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H1R3.3 GenPept UniProtKB/Swiss-Prot:Q9H1R3

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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